New Insights Into the Clinical Features, Pathogenesis and Molecular Genetics of Huntington Disease
- 1 October 1992
- journal article
- review article
- Published by Wiley in Brain Pathology
- Vol. 2 (4) , 321-335
- https://doi.org/10.1111/j.1750-3639.1992.tb00709.x
Abstract
Traditionally, a clinical diagnosis of Huntington disease (HD) presents no problems in patients with a positive family history, consistent with autosomal dominant inheritance, chorea or other extrapyramidal motor signs, and progressive mental decline. However, due to the slowly progressive nature of the disease and the slow evolution of signs and symptoms, it is often difficult to determine when at risk individuals are showing early signs. Moreover, the clinical recognition of both early and late-onset cases, and of choreic patients in whom a family history is lacking, presents special diagnostic challenges. In recent years, much progress has been made in the recognition of early clinical signs of the disease. Factors which have contributed to this understanding include the longitudinal study of large cohorts of at-risk individuals, particularly in Venezuela, the data from predictive testing programs, and the application of positron emission tomography (PET)-scanning to individuals without overt chorea. We are now able to identify persons at risk as being affected before they display overt and obvious involuntary movements.Keywords
This publication has 100 references indexed in Scilit:
- Nonrandom association between huntington disease and two loci separated by about 3 Mb on 4p16.3Genomics, 1992
- New DNA markers in the Huntington's disease gene candidate regionSomatic Cell and Molecular Genetics, 1991
- Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.Journal of Medical Genetics, 1991
- Mapping of cosmid clones in Huntington's disease region of chromosome 4Somatic Cell and Molecular Genetics, 1991
- Abnormalities of Striatal Projection Neurons andN-Methyl-D-Aspartate Receptors in Presymptomatic Huntington's DiseaseNew England Journal of Medicine, 1990
- Recombination events suggest potential sites for the Huntington's disease geneNeuron, 1989
- A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease geneGenomics, 1987
- Reduced Cerebral Glucose Metabolism in Asymptomatic Subjects at Risk for Huntington's DiseaseNew England Journal of Medicine, 1987
- ‘Choreic’ movement induced by unilateral kainate lesion of the striatum and l-DOPA administration in monkeyNeuroscience Letters, 1986
- Observations on Huntington's chorea in childhoodThe Journal of Pediatrics, 1965